234 related articles for article (PubMed ID: 30266296)
1. Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.
Blum WF; Klammt J; Amselem S; Pfäffle HM; Legendre M; Sobrier ML; Luton MP; Child CJ; Jones C; Zimmermann AG; Quigley CA; Cutler GB; Deal CL; Lebl J; Rosenfeld RG; Parks JS; Pfäffle RW
EBioMedicine; 2018 Oct; 36():390-400. PubMed ID: 30266296
[TBL] [Abstract][Full Text] [Related]
2. Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement.
Rohayem J; Drechsel H; Tittel B; Hahn G; Pfaeffle R; Huebner A
Horm Res Paediatr; 2016; 86(2):106-116. PubMed ID: 27487097
[TBL] [Abstract][Full Text] [Related]
3. Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
Sobrier ML; Tsai YC; Pérez C; Leheup B; Bouceba T; Duquesnoy P; Copin B; Sizova D; Penzo A; Stanger BZ; Cooke NE; Liebhaber SA; Amselem S
Hum Mol Genet; 2016 Feb; 25(3):472-83. PubMed ID: 26612202
[TBL] [Abstract][Full Text] [Related]
4. Genetics of human stature: Insight from single gene disorders.
Kiess W; Kratzsch J; Kruis T; Müller E; Wallborn T; Odeh R; Schlicke M; Klammt J; Pfäffle R
Horm Res Paediatr; 2011; 76 Suppl 3():11-3. PubMed ID: 21912148
[TBL] [Abstract][Full Text] [Related]
5. PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.
de Graaff LC; Argente J; Veenma DC; Drent ML; Uitterlinden AG; Hokken-Koelega AC
Horm Res Paediatr; 2010; 73(5):363-71. PubMed ID: 20389107
[TBL] [Abstract][Full Text] [Related]
6. Mutations Within the Transcription Factor
Bulut FD; Özdemir Dilek S; Kotan D; Mengen E; Gürbüz F; Yüksel B
J Clin Res Pediatr Endocrinol; 2020 Sep; 12(3):261-268. PubMed ID: 31948187
[TBL] [Abstract][Full Text] [Related]
7. Magnetic resonance imaging of the hypothalamus-pituitary unit in childrensuspected of hypopituitarism: who, how and when toinvestigate.
Maghnie M; Ghirardello S; Genovese E
J Endocrinol Invest; 2004 May; 27(5):496-509. PubMed ID: 15279086
[TBL] [Abstract][Full Text] [Related]
8. Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.
Osorio MG; Marui S; Jorge AA; Latronico AC; Lo LS; Leite CC; Estefan V; Mendonca BB; Arnhold IJ
J Clin Endocrinol Metab; 2002 Nov; 87(11):5076-84. PubMed ID: 12414875
[TBL] [Abstract][Full Text] [Related]
9. The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.
Kelberman D; Dattani MT
Ann Med; 2006; 38(8):560-77. PubMed ID: 17438671
[TBL] [Abstract][Full Text] [Related]
10. Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea.
Choi JH; Jung CW; Kang E; Kim YM; Heo SH; Lee BH; Kim GH; Yoo HW
Yonsei Med J; 2017 May; 58(3):527-532. PubMed ID: 28332357
[TBL] [Abstract][Full Text] [Related]
11. Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency.
Alatzoglou KS; Turton JP; Kelberman D; Clayton PE; Mehta A; Buchanan C; Aylwin S; Crowne EC; Christesen HT; Hertel NT; Trainer PJ; Savage MO; Raza J; Banerjee K; Sinha SK; Ten S; Mushtaq T; Brauner R; Cheetham TD; Hindmarsh PC; Mullis PE; Dattani MT
J Clin Endocrinol Metab; 2009 Sep; 94(9):3191-9. PubMed ID: 19567534
[TBL] [Abstract][Full Text] [Related]
12. Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report.
Lamine F; Kanoun F; Chihaoui M; Saveanu A; Menif E; Barlier A; Enjalbert A; Brue T; Slimane H
Pituitary; 2012 Dec; 15 Suppl 1():S81-6. PubMed ID: 22797803
[TBL] [Abstract][Full Text] [Related]
13. Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency.
Birla S; Khadgawat R; Jyotsna VP; Jain V; Garg MK; Bhalla AS; Sharma A
Growth Horm IGF Res; 2016 Aug; 29():50-56. PubMed ID: 27114065
[TBL] [Abstract][Full Text] [Related]
14. [Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].
Halász Z
Orv Hetil; 2011 Feb; 152(6):221-32. PubMed ID: 21278027
[TBL] [Abstract][Full Text] [Related]
15. Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh.
Maheshwari HG; Silverman BL; Dupuis J; Baumann G
J Clin Endocrinol Metab; 1998 Nov; 83(11):4065-74. PubMed ID: 9814493
[TBL] [Abstract][Full Text] [Related]
16. Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis.
Yang Y; Guo QH; Wang BA; Dou JT; Lv ZH; Ba JM; Lu JM; Pan CY; Mu YM
Clin Endocrinol (Oxf); 2013 Jul; 79(1):86-92. PubMed ID: 23199197
[TBL] [Abstract][Full Text] [Related]
17. Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?
Dattani MT
Clin Endocrinol (Oxf); 2005 Aug; 63(2):121-30. PubMed ID: 16060904
[TBL] [Abstract][Full Text] [Related]
18. Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency.
Rodriguez R; Andersen B
Minerva Endocrinol; 2003 Jun; 28(2):123-33. PubMed ID: 12717343
[TBL] [Abstract][Full Text] [Related]
19. Pituitary dwarfism in the R271W Pit-1 gene mutation.
Aarskog D; Eiken HG; Bjerknes R; Myking OL
Eur J Pediatr; 1997 Nov; 156(11):829-34. PubMed ID: 9392392
[TBL] [Abstract][Full Text] [Related]
20. Growth hormone releasing hormone receptor (GHRH-r) gene mutation in Indian children with familial isolated growth hormone deficiency: a study from western India.
Desai MP; Upadhye PS; Kamijo T; Yamamoto M; Ogawa M; Hayashi Y; Seo H; Nair SR
J Pediatr Endocrinol Metab; 2005 Oct; 18(10):955-73. PubMed ID: 16355809
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]